One year after researchers published their work on a physiological test for autism, a follow-up study confirms its success in assessing whether a child is on the autism spectrum. Results of the study, which uses an algorithm to predict if a child has autism spectrum disorder (ASD) based on metabolites in a blood sample, were published yesterday in Bioengineering & Translational Medicine.

"We looked at groups of children with ASD independent from our previous study and had similar success. We are able to predict with 88 percent accuracy whether children have autism," said Juergen Hahn, lead author, systems biologist, professor, head of the Rensselaer Polytechnic Institute department of biomedical engineering.

Rather than search for a sole indicator of ASD, the approach Hahn developed uses big data techniques to search for patterns in metabolites relevant to two connected cellular pathways with suspected links to ASD. The initial success in 2017 analyzed data from a group of 149 people, about half of whom had been previously diagnosed with ASD. For each member of the group, Hahn obtained data on 24 metabolites related to the two cellular pathways—the methionine cycle and the transsulfuration pathway. Deliberately omitting data from one individual in the group, Hahn subjected the remaining dataset to advanced analysis techniques and used results to generate a predictive algorithm. The algorithm then made a prediction about the data from the omitted individual. Hahn cross-validated the results, swapping a different individual out of the group and repeating the process for all 149 participants. His method correctly identified 96.1 percent of all typically developing participants and 97.6 percent of the ASD cohort.

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The new study applied Hahn's approach to an independent dataset. To avoid the lengthy process of gathering new data through clinical trials, Hahn and his team searched for existing datasets that included the metabolites he had analyzed in the original study. The researchers identified appropriate data from three different studies that included a total of 154 children with autism conducted by researchers at the Arkansas Children's Research Institute. The data included only 22 of the 24 metabolites he used to create the original predictive algorithm, however Hahn determined the available information would be sufficient for the test.

autism

The team used their approach to recreate the predictive algorithm, this time using data of the 22 metabolites from the original group of 149 children. The algorithm was then applied to the new group of 154 children for testing purposes. When the predictive algorithm was applied to each individual, it correctly predicted autism with 88% accuracy.

Image: One year after researchers published their work on a physiological test for autism, a follow-up study confirms its success in assessing whether a child is on the autism spectrum. Image courtesy of Rensselaer